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Article

Comprehensive characterization of copy number variation (CNV) called from array, long- and short-read data.

BMC genomics - 17 Nov 2021

Lavrichenko Ksenia, Johansson Stefan, Jonassen Inge

Abstract excerpt

BACKGROUND: SNP arrays, short- and long-read genome sequencing are genome-wide high-throughput technologies that may be used to assay copy number variants (CNVs) in a personal genome. Each of these technologies comes with its own limitations and biases, many of which are well-known, but not all of them are thoroughly quantified. RESULTS: We assembled an ensemble of public datasets of published CNV calls and raw...

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Identifiers

PMID: 34789167
DOI: 10.1186/s12864-021-08082-3
PMCID: PMC8596897

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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